Canonical Allele Identifier: CA1014783625
Gene:

Linked Data

dbSNP Id: rs2085111407
gnomAD v3: 20-2470904-G-T
gnomAD v4: 20-2470904-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470904G>T , CM000682.2:g.2470904G>T GRCh38
NC_000020.10:g.2451550G>T , CM000682.1:g.2451550G>T GRCh37
NC_000020.9:g.2399550G>T NCBI36
NG_042057.1:g.4950C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3146C>A ENSP00000456213.1:n.305-3146C>A
Search 100 bp 5'
Search 100 bp 3'